The phenotypic spectrum of dystonia in Mohr-Tranebjaerg syndrome.

摘要: Mohr-Tranebjaerg syndrome (MTS) is an X-linked recessive disorder characterized by deafness and dystonia. However the phenotypic expression of dystonia has not been systematically defined. We report clinical, neurophysiological, ophthalmological data on 6 subjects from 3 Australian kindreds, including 2 with novel mutations, together a systematic review literature, in order to define Profound hearing impairment affected males develops infancy precedes development dystonia, which varies time onset first sixth decades, peak second third decades. Dystonia MTS tends be focal, segmental, or multifocal distribution at onset, predilection for upper body, variably involving head, neck, limbs. The majority patients have progression generalization their regardless age onset. Within our we observed relative intrafamilial homogeneity but interfamilial variation. median moderate-severely disabling these was 11 years. Associated features included progressive cognitive decline, pyramidal signs, 1 patient, gait freezing postural instability. Optic atrophy cortical visual were both observed. female patient who developed multiple neurological complications MTS. Our findings more clearly expand phenotype other implications diagnosis management this condition.